Publications:

Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.

Medicine

Ma, Dan D; Wang, Xuxia X; Guo, Jun J; Zhang, Jun J; Cai, Tao T

Publication Date: 2018-08

Variant appearance in text: RUNX2: 560T>C

PubMed Link: 30095610

Variant Present in the following documents:

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Calcium imaging with genetically encoded sensor Case12: Facile analysis of α7/α9 nAChR mutants.

Plos One

Shelukhina, Irina I; Spirova, Ekaterina E; Kudryavtsev, Denis D; Ojomoko, Lucy L; Werner, Markus M; Methfessel, Christoph C; Hollmann, Michael M; Tsetlin, Victor V

Publication Date: 2017

Variant appearance in text: CCD: F187S

PubMed Link: 28797116

Variant Present in the following documents:

• Main text
• pone.0181936.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CCD: F187S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: RUNX2: F187S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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